Canonical Allele Identifier: CA6153845

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 951147
• ClinVar RCV Id: RCV001222997 ; RCV001586067 ; RCV002429946
• dbSNP Id: rs146266992
• ExAC: 11:68704088 G / A
• gnomAD v2: 11-68704088-G-A
• gnomAD v3: 11-68936620-G-A
• gnomAD v4: 11-68936620-G-A
• COSMIC: COSM4127489
• MyVariant Identifiers: chr11:g.68704088G>A (hg19) ; chr11:g.68936620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936620G>A , CM000673.2:g.68936620G>A	GRCh38
NC_000011.9:g.68704088G>A , CM000673.1:g.68704088G>A	GRCh37
NC_000011.8:g.68460664G>A	NCBI36
NG_007976.1:g.37770G>A , LRG_250:g.37770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2140G>A MANE Select	ENSP00000255078.4:p.Gly714Arg
ENST00000674675.1:c.384G>A
ENST00000674878.1:c.384G>A
ENST00000674955.1:c.*857G>A	ENSP00000502463.1:n.*857G>A
ENST00000675118.1:c.1628G>A
ENST00000675389.1:n.415G>A
ENST00000675615.1:c.2140G>A	ENSP00000502413.1:p.Gly714Arg
ENST00000675648.1:n.1515G>A
ENST00000675916.1:c.384G>A
ENST00000676173.1:n.2885G>A
ENST00000676182.1:c.571G>A
ENST00000676228.1:c.*1463G>A	ENSP00000502375.1:n.*1463G>A
ENST00000255078.7:c.2140G>A	ENSP00000255078.3:p.Gly714Arg
ENST00000539064.5:n.1899G>A
ENST00000543739.5:n.1133G>A
NM_002180.2:c.2140G>A , LRG_250t1:c.2140G>A	NP_002171.2:p.Gly714Arg
XM_005273974.2:c.1129G>A	XP_005274031.1:p.Gly377Arg
XM_005273975.2:c.1012G>A	XP_005274032.1:p.Gly338Arg
XM_011544994.1:c.907G>A	XP_011543296.1:p.Gly303Arg
XR_949903.1:n.2242G>A
XM_005273975.3:c.1012G>A	XP_005274032.1:p.Gly338Arg
XM_017017669.2:c.1129G>A	XP_016873158.1:p.Gly377Arg
XM_017017670.2:c.1129G>A	XP_016873159.1:p.Gly377Arg
XR_949903.3:n.2238G>A
NM_002180.3:c.2140G>A MANE Select	NP_002171.2:p.Gly714Arg